0.1.0 - ci-build
This page is part of the MatchSync Implementation Guide (v0.1.0: Release Draft) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions
Official URL: http://fhir.nmdp.org/ig/matchsync/ValueSet/nmdp-disease-codes | Version: 0.1.0 | |||
Active as of 2023-05-09 | Computable Name: NMDPDiseaseVS |
NMDP disease codes
References
http://terminology.nmdp.org/codesystem/disease
This value set contains 100 concepts
Expansion based on NMDP Disease Code System v0.1.0 (CodeSystem)
Code | System | Display |
ABL | http://terminology.nmdp.org/codesystem/disease | ACUTE BILINEAGE LEUKEMIA |
AISA | http://terminology.nmdp.org/codesystem/disease | ACQ IDIOPATH SIDERBLASTIC ANEM |
ALD | http://terminology.nmdp.org/codesystem/disease | ADRENOLEUKODYSTROPHY |
ALL | http://terminology.nmdp.org/codesystem/disease | ACUTE LYMPHOBLASTIC LEUKEMIA |
AMCL | http://terminology.nmdp.org/codesystem/disease | ACUTE MAST CELL LEUKEMIA |
AMEGCT | http://terminology.nmdp.org/codesystem/disease | AMEGAKARYOCY/CONGENTIAL THROM |
AML | http://terminology.nmdp.org/codesystem/disease | ACUTE MYELOGENOUS LEUKEMIA |
ASPGL | http://terminology.nmdp.org/codesystem/disease | ASPARTYL GLUCOSAMINIDASE |
AT | http://terminology.nmdp.org/codesystem/disease | ATAXIA-TELANGIECTASIA |
AUL | http://terminology.nmdp.org/codesystem/disease | ACUTE UNDIFFERENTIATED LEUK-MO |
BGLUD | http://terminology.nmdp.org/codesystem/disease | BETA-GLUCURONIDASE DEFICIENCY |
BLSYND | http://terminology.nmdp.org/codesystem/disease | BARE LYMPHOCYTE SYNDROME |
BRCA | http://terminology.nmdp.org/codesystem/disease | BREAST CANCER |
BTHAL | http://terminology.nmdp.org/codesystem/disease | BETA THALASSEMIA MAJOR |
C-HHYP | http://terminology.nmdp.org/codesystem/disease | CARTILAGE-HAIR HYPOPLASIA |
CGD | http://terminology.nmdp.org/codesystem/disease | CHRONIC GRANULOMATOUS DISEASE |
CID | http://terminology.nmdp.org/codesystem/disease | COMBINED IMMUNODEFICIENCY |
CLL | http://terminology.nmdp.org/codesystem/disease | CHRONIC LYMPHOCYTIC LEUKEMIA |
CML | http://terminology.nmdp.org/codesystem/disease | CHRONIC MYELOGENOUS LEUKEMIA |
CMML | http://terminology.nmdp.org/codesystem/disease | CHRONIC MYELOMONOCYTIC LEUK |
CNSCA | http://terminology.nmdp.org/codesystem/disease | CENTRAL NERVOUS SYSTEM TUMORS |
DIGRGE | http://terminology.nmdp.org/codesystem/disease | DI GEORGE SYNDROME |
ETC | http://terminology.nmdp.org/codesystem/disease | ESSENTIAL THROMOBOCYTHEMIA |
EWINGS | http://terminology.nmdp.org/codesystem/disease | EWINGS SARCOMA |
FA | http://terminology.nmdp.org/codesystem/disease | FANCONI ANEMIA |
FEL | http://terminology.nmdp.org/codesystem/disease | FAMILIAL ERYTHROPHAGOCYTIC |
FUCOSI | http://terminology.nmdp.org/codesystem/disease | FUCOSIDOSIS |
GAUCHR | http://terminology.nmdp.org/codesystem/disease | GAUCHER'S DISEASE |
GLTROM | http://terminology.nmdp.org/codesystem/disease | GLANZMANNS THROMBASTHENIA |
GLUCST | http://terminology.nmdp.org/codesystem/disease | GLUCOSE STORAGE DISEASE |
HCL | http://terminology.nmdp.org/codesystem/disease | HAIRY CELL LEUKEMIA |
HISX | http://terminology.nmdp.org/codesystem/disease | HISTIOCYTOSIS-X |
HIV | http://terminology.nmdp.org/codesystem/disease | HIV INFECTION |
HL | http://terminology.nmdp.org/codesystem/disease | HODGKINS LYMPHOMA |
HPGC | http://terminology.nmdp.org/codesystem/disease | HEMOPHAGOCYTOSIS |
HUNTER | http://terminology.nmdp.org/codesystem/disease | HUNTER SYNDROME (MPS-II) |
HURLER | http://terminology.nmdp.org/codesystem/disease | HURLER SYNDROME (MPS-IH) |
ICELL | http://terminology.nmdp.org/codesystem/disease | I-CELL DISEASE |
IMDNP | http://terminology.nmdp.org/codesystem/disease | IMMUNE DEFICIENCY + NEUTROPEN |
JCML | http://terminology.nmdp.org/codesystem/disease | JUVENILE CHRONIC MYELOGENOUS |
KOSTMN | http://terminology.nmdp.org/codesystem/disease | KOSTMANN'S AGRANULOCYTOSIS |
KRABBE | http://terminology.nmdp.org/codesystem/disease | KRABBE DISEASE |
LAD | http://terminology.nmdp.org/codesystem/disease | LEUKOCYTE ADHESION DEFICIENCY |
LN | http://terminology.nmdp.org/codesystem/disease | LESCH-NYHAN |
LNS | http://terminology.nmdp.org/codesystem/disease | LESCH-NYHAN |
LYSOST | http://terminology.nmdp.org/codesystem/disease | LYSOSOMAL STORAGE DISEASE |
MANNO | http://terminology.nmdp.org/codesystem/disease | MANNOSIDOSIS |
MARLAM | http://terminology.nmdp.org/codesystem/disease | MAROTEAUX-LAMY (MPS-VI) |
MDS | http://terminology.nmdp.org/codesystem/disease | MYELODYSPLASTIC DISORDER |
MFMM | http://terminology.nmdp.org/codesystem/disease | MYELOFIBRO MYELOID METAPLASIA |
MLD | http://terminology.nmdp.org/codesystem/disease | METACHROMATIC LEUKODYSTROPHY |
MM | http://terminology.nmdp.org/codesystem/disease | MULTIPLE MYELOMA |
MORQUA | http://terminology.nmdp.org/codesystem/disease | MORQUIO A - MPS IVA |
MORQUB | http://terminology.nmdp.org/codesystem/disease | MORQUIO B - MPS IVB |
MORQUO | http://terminology.nmdp.org/codesystem/disease | MORQUIO (MPS-IV) |
MPS | http://terminology.nmdp.org/codesystem/disease | MUCOPOLYSACCHARIDOSIS (MPS-V) |
N-P | http://terminology.nmdp.org/codesystem/disease | NEIMAN-PICK DISEASE |
NB | http://terminology.nmdp.org/codesystem/disease | NEUROBLASTOMA |
NCL1 | http://terminology.nmdp.org/codesystem/disease | ENZYME NCL 1 |
NCL2 | http://terminology.nmdp.org/codesystem/disease | ENZYME NCL 2 |
NEUTAD | http://terminology.nmdp.org/codesystem/disease | NEUTROPHIL ACTIN DEFICIENCY |
NEUTD | http://terminology.nmdp.org/codesystem/disease | CHEDIAK-HIGASHI SYNDROME |
NHL | http://terminology.nmdp.org/codesystem/disease | NON-HODGKINS LYMPHOMA |
OCID | http://terminology.nmdp.org/codesystem/disease | OTHR COMBINED IMMUNODEFICIENCY |
OHIS | http://terminology.nmdp.org/codesystem/disease | OTHER HISTIOCYTIC DISORDERS |
OIEA | http://terminology.nmdp.org/codesystem/disease | OTH ERYTHROCYT DIFFERENTIATION |
OIIS | http://terminology.nmdp.org/codesystem/disease | OTHER IMMUNE SYSTEM |
OIMD | http://terminology.nmdp.org/codesystem/disease | OTH INHER METABOLISM DISORD |
OIMDL | http://terminology.nmdp.org/codesystem/disease | OTH MUCOLIPIDOSES |
OIMDP | http://terminology.nmdp.org/codesystem/disease | OTH MUCOPOLYSACCHARIDOSIS |
OIPA | http://terminology.nmdp.org/codesystem/disease | OTH ABNORMALITIES OR PLATELETS |
OMDS | http://terminology.nmdp.org/codesystem/disease | OTHER MYELODYSPLASTIC DISORDER |
OMF | http://terminology.nmdp.org/codesystem/disease | OTHER MYLEOFIBROSIS/MYLEOSCLER |
OMMEN | http://terminology.nmdp.org/codesystem/disease | OMMEN'S SYNDROME |
OMS | http://terminology.nmdp.org/codesystem/disease | OTH MALIGNANCY, SPECIFY |
OND | http://terminology.nmdp.org/codesystem/disease | OTHER NON-MALIGNANT DISEASE |
OOL | http://terminology.nmdp.org/codesystem/disease | OTHER LEUKEMIA SPECIFY |
OPCD | http://terminology.nmdp.org/codesystem/disease | OTHER PLASMA CELL DISORDER |
OSCID | http://terminology.nmdp.org/codesystem/disease | OTHER SCID |
OST | http://terminology.nmdp.org/codesystem/disease | OSTEOPETROSIS |
OTHHGP | http://terminology.nmdp.org/codesystem/disease | OTHER HEMOGLOBINOPATHY |
PCL | http://terminology.nmdp.org/codesystem/disease | PLASMA CELL LEUKEMIA |
PHILLY | http://terminology.nmdp.org/codesystem/disease | PROLYMPHOCYTIC LEUKEMIA |
PNH | http://terminology.nmdp.org/codesystem/disease | PAROXYSMAL NOCTURNAL HEMOGLOB |
PV | http://terminology.nmdp.org/codesystem/disease | POLYCYTHEMIA VERA |
RA | http://terminology.nmdp.org/codesystem/disease | REFRACTORY ANEMIA (RA) |
RAEB | http://terminology.nmdp.org/codesystem/disease | REFRACT ANEMIA-EXCESS BLASTS |
RAEBIT | http://terminology.nmdp.org/codesystem/disease | REFRACT ANEMIA-EX. BLAST TRAN |
RCA | http://terminology.nmdp.org/codesystem/disease | PURE RED CELL APLASIA |
RCC | http://terminology.nmdp.org/codesystem/disease | RENAL CELL CARCINOMA |
RETDG | http://terminology.nmdp.org/codesystem/disease | RETICULAR DYSGENESIS |
SAA | http://terminology.nmdp.org/codesystem/disease | SEVERE APLASTIC ANEMIA |
SANFIA | http://terminology.nmdp.org/codesystem/disease | SANFILIPPO A - MPS IIIA |
SANFIB | http://terminology.nmdp.org/codesystem/disease | SANFILIPPO B - MPS IIIB |
SANFIC | http://terminology.nmdp.org/codesystem/disease | SANFILIPPO C - MPS IIIC |
SANFID | http://terminology.nmdp.org/codesystem/disease | ANFILIPPO D - MPS IIID |
SANFIL | http://terminology.nmdp.org/codesystem/disease | SANFILLIPPO (MPS-III) |
SCA | http://terminology.nmdp.org/codesystem/disease | SICKLE CELL ANEMIA |
SCHEIE | http://terminology.nmdp.org/codesystem/disease | SCHEIE SYNDROME (MPS-IS) |
SCID | http://terminology.nmdp.org/codesystem/disease | SEVERE COMBINED IMMUNODEF |
Explanation of the columns that may appear on this page:
Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
Code | The code (used as the code in the resource instance) |
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
Definition | An explanation of the meaning of the concept |
Comments | Additional notes about how to use the code |